Incidental Mutation 'R2241:Kcnj14'
| ID |
240657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj14
|
| Ensembl Gene |
ENSMUSG00000058743 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 14 |
| Synonyms |
Kir2.4, A930026G01Rik, IRK4 |
| MMRRC Submission |
040241-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2241 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45465871-45474180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45469325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 60
(R60H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071937]
[ENSMUST00000210232]
|
| AlphaFold |
Q8JZN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071937
AA Change: R60H
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000071829
Gene: ENSMUSG00000058743
AA Change: R60H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
51 |
377 |
1.1e-146 |
PFAM |
|
low complexity region
|
399 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210232
AA Change: R60H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211394
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
G |
T |
15: 64,571,230 (GRCm39) |
L1138I |
possibly damaging |
Het |
| Aftph |
T |
C |
11: 20,676,328 (GRCm39) |
D427G |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,834,302 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
T |
3: 144,616,987 (GRCm39) |
S888T |
probably benign |
Het |
| Cyb5b |
A |
G |
8: 107,897,045 (GRCm39) |
D105G |
probably benign |
Het |
| Ddx20 |
A |
C |
3: 105,590,521 (GRCm39) |
Y258* |
probably null |
Het |
| Farp2 |
C |
T |
1: 93,507,625 (GRCm39) |
T441I |
probably benign |
Het |
| Fzd6 |
G |
T |
15: 38,894,931 (GRCm39) |
A366S |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,511,474 (GRCm39) |
V175A |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,131,357 (GRCm39) |
I575N |
probably damaging |
Het |
| Lrch3 |
A |
G |
16: 32,816,211 (GRCm39) |
T151A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mterf2 |
T |
C |
10: 84,956,180 (GRCm39) |
N148S |
possibly damaging |
Het |
| Nae1 |
A |
C |
8: 105,246,420 (GRCm39) |
D268E |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,040 (GRCm39) |
V83A |
possibly damaging |
Het |
| Or6c211 |
G |
A |
10: 129,505,764 (GRCm39) |
T208I |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,493,101 (GRCm39) |
H176R |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,620,928 (GRCm39) |
L916P |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,100,456 (GRCm39) |
Y1987N |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,631,737 (GRCm39) |
L2096P |
probably damaging |
Het |
| Serpina3m |
G |
A |
12: 104,355,708 (GRCm39) |
S125N |
probably benign |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,003 (GRCm39) |
Y117H |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,795,468 (GRCm39) |
N2091K |
possibly damaging |
Het |
| Yme1l1 |
C |
T |
2: 23,086,912 (GRCm39) |
R673* |
probably null |
Het |
|
| Other mutations in Kcnj14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R6122:Kcnj14
|
UTSW |
7 |
45,468,875 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6165:Kcnj14
|
UTSW |
7 |
45,469,424 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6228:Kcnj14
|
UTSW |
7 |
45,468,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6251:Kcnj14
|
UTSW |
7 |
45,467,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Kcnj14
|
UTSW |
7 |
45,467,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7833:Kcnj14
|
UTSW |
7 |
45,467,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8739:Kcnj14
|
UTSW |
7 |
45,468,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Kcnj14
|
UTSW |
7 |
45,469,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Kcnj14
|
UTSW |
7 |
45,469,388 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9165:Kcnj14
|
UTSW |
7 |
45,469,068 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9392:Kcnj14
|
UTSW |
7 |
45,467,159 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Kcnj14
|
UTSW |
7 |
45,469,333 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCACTTGCGAGAAACAG -3'
(R):5'- CAATTCCTGGTACCCCTGAC -3'
Sequencing Primer
(F):5'- CTTGCGAGAAACAGGGAGCC -3'
(R):5'- ACAGATCTAGAGGGGGTCTCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation